ATP4A ATPase H+/K+ transporting subunit alpha

Information
Symbol
ATP4A
Type
protein-coding
Description
ATPase H+/K+ transporting subunit alpha
Entrez Gene ID
495
Genome
hg19
Position
chr19:36,040,933-36,054,560
Genome
hg38
Position
chr19:35,550,031-35,563,658
MIM
137216 OMIM
HGNC
HGNC:819 HGNC
Ensembl
ENSG00000105675 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 56
Likely benign 0 50
Uncertain significance 0 164
Ranking
ClinVar
0
0
14
256
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
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MGeND data only
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Variant name Gene AA change CDS Japanese
frequency
TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence
Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ATP6A
MIM 137216 OMIM
HGNC HGNC:819 HGNC
Ensembl ENSG00000105675 Ensembl
AllianceGenome HGNC:819
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262623.4 hg38 chr19 35,550,031 35,563,658 13,628
ENST00000262623.4 hg19 chr19 36,040,933 36,054,560 13,628
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